Abstract
Screening for haemoglobin genotype was offered to senior school students in Manchester parish in south central Jamaica to test whether this knowledge would influence choice of partner and reduce births with sickle cell disease. Over six academic years, 15,539 students, aged mostly 15–19 years, were screened with voluntary compliance rising from 56 to 92 % over this period. All subjects were given permanent genotype cards and carriers of abnormal genes were offered counselling which explained the reproductive options but avoided recommendations. Prior to screening, all had been offered illustrated lectures on the genetics and clinical features of sickle cell disease. The current study, confined to females with the sickle cell trait, interviewed 763/845 (90.3 %) subjects seeking to assess retention of this knowledge and their response to subsequent boyfriends. Of those interviewed, 42 subjects were excluded (38 emigrated, one died, three received incorrect genotype cards) leaving 721 with complete information. Knowledge of genotype was retained in 95 %, the outcome of future offspring correctly recalled in 91 %, and haemoglobin genotype cards were still possessed by 89 %. A current ‘boyfriend’ was acknowledged in 403 (56 %) of whom the partner’s genotype was known in 88 (74 determined by the project laboratory; 14 by other laboratories) and unknown in 315 (78 %). Offers of free blood tests to all these partners were accepted by only 14 (4 %). Seventeen (2.4 %) were married but the husbands genotype was known in only five (four AA, one AS) of these. Most subjects retain knowledge of their genotype and of its significance for having affected children but the reluctance of partners to be tested was a major obstacle.
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Acknowledgments
This work was supported by the National Health Fund of Jamaica, the Chase Fund of Jamaica, and the Alcoa Foundation. Support from the Southern Regional Health Authority and the staff of the hospitals operating in south and west Jamaica is gratefully acknowledged.
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All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000. The Ministry of Health and the Ministry of Education of the Jamaican Government approved the study and believing that the advantages of testing far outweighed the potential disadvantages of blood tests, approved the ‘opt-out’ procedure for parental consent.
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Mason, K., Gibson, F., Gardner, RA. et al. Prevention of sickle cell disease: observations on females with the sickle cell trait from the Manchester project, Jamaica. J Community Genet 7, 127–132 (2016). https://doi.org/10.1007/s12687-015-0258-9
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DOI: https://doi.org/10.1007/s12687-015-0258-9